The genomics revolution is happening now and will affect everyone.
My first goal is to provide information to general public about advances in genomics that can impact you. If you have questions, please feel free to ask. If I don't know the answers, I have plenty of connections I can rely on to get you the information you need.
My second goal is to post articles on recent scientific developments in the biotechnology and genomics research space, that would interest like minded scientists and other biotechnology professionals.

Personalised Genomics

01/04/2010

Ten years ago this June, Bill Clinton and Tony Blair announced that the first draft of the human genome had been completed by scientists. The politicians were a tad premature -- the draft was not published until 2001, the "finished" genome sequence took several more years, and a few small segments are still unread. But the achievement remains a huge landmark in self-knowledge for our species, and an anniversary that deserves the great attention it is certain to get.

Looking back, most of us will remember 2009 for the incredible swing in fortune it offered to the biotech industry, from widespread survival concerns in the first quarter to some record-making deals in the fourth. But some of last year's developments point to how the industry may evolve in the coming decade. Here, in no particular order, are some of 2009's trends and stories that are shaping our future:

01/01/2010

During the summer of 2009, I came across a fascinating
Genetic Study that I decided to participate in Part 1 of this blog will
describe the study and some of its features I particularly liked.In Part 2, I will share some of my personal
experiences in participating in the study.

The Coriell Personalized Medicine Collaborative (CPMC) is a
research study with a goal of understanding if personalized genetic information
can be used to improve health outcomes.

Participants are asked to contribute a Saliva Sample (by
spitting a lot in a plastic tube) which is then screened for genetic variants,
which can be attributable to common diseases and predict responses to certain
medications.

The participants are also asked to complete an online
profile of themselves in which they are asked a series of questions on their
lifestyle, family history, current health and medications used.This information in combination with the test
is used to generate a personalized genetic report which is viewable by the
participant online, once the results are available.That’s it – it’s free and it’s really simple.

I wanted to highlight a few of the features of the study
that I particularly liked

The complex diseases/that
are reported on are certain types of cancers, diabetes, heart disease and
other multi-factorial conditions.The key thing that they have in common is that the risk of
developing them can all be reduced by changes in behavior , lifestyle or
medical management– only conditions which are potentially “actionable’ are
reported.

Apart from multi-factorial
conditions, samples are also screened for genetic variants which can
influence how individuals metabolize certain prescription drugs, something
that’s definitely useful to know when making treatment decisions.

One of my favorite things about the CPMC
is the lengths they go to ensure that each participant has the opportunity
for a great education in genetics, with up to date easily digestible
information. The website gives the user a crash course in Genetics 101,
the principles of heredity and a discussion on how genomics knowledge may be
useful in making medical decisions.The sections of the website dedicated to genetic education are
excellent at dispelling a number of myths that the public believe about
genetics and genomics.One example is
the distinctions made between sporadic cancers, familial cancers and hereditary
ones.When we say “cancer is
genetic” many equate that only with hereditary genetics and may have
fatalistic misconceptions when learning that they have inherited a ‘cancer
gene.’ The explanations are simple,
using accessible language and diagrams.

Once the results are made
available on the website (approx 6 weeks after sample submission)
participants are notified by email and then they have several choices.

To learn about the
condition and what the risks actually mean.

To view the results with a very easy to
understand interpretation of what they mean

The choice NOT to view
each or any of the individual results

To get genetic counseling,
in person or over the phone before or after viewing the results.This is a very key part of the study
that I believe, differentiates it from some of the commercial ‘Direct to
consumer’(DTC) genetic testing companies. It’s particularly important
when you consider the ‘fear factor’ that the public currently have with
respect to genetic information, particularly when we are talking about
complex conditions and disease..

The study is ongoing over
many years.Genetic research is
constant and every day new genes, are discovered and associated with
different diseases.As this happens
this information will be made available to the participants provided they
are ‘actionable’ and the participants continue to annually update their
online medical and lifestyle profile. I believe that this continuous engagement
of the participants will also play a major role in improving the
scientific literacy of the individuals with regards to personalized genomics.

Participants have the
option to release their anonymous data to non profit or not for profit
organizations to use as part of their studies into genetic disease. Another great feature of the study, not only can participants gain more
knowledge of their own genomes, but they can also make an active
contribution to genetic and disease research which will ultimately benefit
future generations.

The collaborative nature
of this study is again a key differentiator from other commercial DTC
entities.This study brings
together thought leading scientific researchers, genetic counselors, IT specialists,
hospitals, clinicians, members of the public and many more groups who will
all play a key role in advancing personalized genomics initiatives.

The ‘online ‘nature of the
whole process is a view to the future of what Medicine 2.0 could look
like.A web based interface that
enables patients to learn about medical conditions in general, get test
results back electronically, learn specifics about their conditions and
how to manage them, create and follow treatment plans, interact with their
medical practitioners and schedule appointments for treatments without
ever leaving their homes.

Once I heard about the CPMC and researched it a little, it didn’t
take me long to decide that I wanted to participate. In Part 2, I will share
with you my own experiences of participating in this very exciting study.

I would love to hear from others who decided to take a
Personalized Genomics/Medicine test.

12/27/2009

NHS Starts Pilot Program to Increase Doctors' Genetics Knowledge

July 30, 2009

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The UK's National Health Service wants to prepare its physicians for the changes that personalized and genomic medicine will bring to the healthcare field and has invested £4.5 million ($7.4 million) in a new pilot program to begin that process.

The goal of the new program is to provide enhanced training in genetic technologies and clinical applications for healthcare scientists working in laboratory genetics.

Funded by the Department of Health under the UK Modernizing Scientific Careers programme, the pilot will begin to "address the training needs of the healthcare science workforce in genetics," the Department of Health said today.

Set to begin in October, the program will fund 24 pilot training posts for 12 trainee Healthcare Science Practitioners and 12 Healthcare Scientists in Genetics. These trainees will be based in a number of NHS genetics departments throughout England, and they will meet for national training events.

The pilot will have four components and goals including establishing a national School of Genetics in the West Midlands; modernizing the genetics curricula to respond to breakthrough scientific advances and their applications for patients and the public; responding to future workforce needs to keep up with discoveries from the last decade about how to diagnose and predict disease; informing other healthcare science training programs that will begin in 2010 and will be implemented in 2012.

"Geneticists carry out life informing work by predicting and diagnosing disease so it is fundamental that we invest in creating training and career opportunities for this important group of NHS staff," Health Minister Ann Keen said in a statement. "This pilot will also inform the Modernizing Scientific Careers programme as it moves to implementation as well as creating a high quality healthcare science workforce which will make the benefits of science and technology a reality for patients."

The NHS West Midlands program will coordinate the national program and the trainees, prepare trainers, ensure the requirements of assessment processes, and serve other functions.

The UK's House of Lords
earlier this month released a report stating that the mainstream NHS is
"poorly equipped" to meet the "increasing demands" that genetic testing
is placing on doctors and nurses, and said that more training in
genomic medicine will be vital.

To meet those needs, the UK needs to begin taking steps toward
addressing knowledge of genetics and genomic medicine, the House of
Lords Science and Technology committee said in the report, and urged the creation of a white paper that would outline how genetics technologies could be integrated into the national health system.

The discovery could lead to new treatments for the conditions which affects
one million children in Britain.

Scientists in America found the gene called DEBNND1B sets off a chain reaction
that causes the immune system to overreact to irritants, triggering symptoms
such as difficulty breathing and wheezing.

The findings are published online by the New England Journal of Medicine.

Only on other gene has been found that increases the chances of developing
asthma.

Lead author Dr Hakon Hakonarson, director of the Center for Applied Genomics
at The Children's Hospital of Philadelphia, compared the genes of 793
children with persistent asthma to those to 1,988 children without to
discover those with the disease had a variation in their genetic code.

Dr Hakonarson said: "We now know that the DENND1B gene and its protein
are involved in the release of cytokines, which are signalling molecules
that in this case tell the body how it should respond to foreign particles.

"Many of these particles are well-known triggers of asthma. In asthma,
patients have an inappropriate immune response in which they develop airway
inflammation and overreaction of the airway muscle cells, referred to as
airway hyperresponsiveness.

"The gene mutations in DENND1B appear to lead to overproduction of
cytokines that subsequently drive this oversensitive response in asthma
patients."

He added: "Because this gene seems to regulate many different cytokines,
intervening in this pathway has great potential for treating asthma.

"Other asthma-related genes remain to be discovered, but finding a way
to target this common gene variant could benefit large numbers of children
if researchers can develop drugs to contain this signalling pathway. ."

Leanne Metcalf, Director of Research at Asthma UK, said: "A person’s
likelihood of developing asthma is a combination of their genetic make-up
and the kind of environment they are exposed to, especially in early life.

"This large scale and well designed study has shed more light on the
link between genetics and the overreaction of the immune system which is
responsible for asthma symptoms, and opens up an exciting potential avenue
for new treatments for the 1.1m children in the UK with asthma.

"It is essential to remember, however, that genetics forms only one part
of a much bigger picture, so further research is needed to understand
exactly how genetic and environmental factors influence asthma."